Generation of ENG p.Met1Val mutant LUMCi029-A-2 for modeling Hereditary Hemorrhagic Telangiectasia type 1
Summary
Hereditary Hemorrhagic Telangiectasia type I (HHT1) is an autosomal dominant vascular disease caused by pathogenic variants in endoglin (ENG) gene. It is located on chromosome 9 and encodes for the Endoglin protein, which is involved in the TGFb/BMP signalling pathway. Using CRISPR/Cas9-mediated gene editing, the ENG c.1A > G mutation was introduced in homozygous form in the well-characterized LUMCi029-A line. The resulting hiPSC line, LUMCi029-A-2, showed typical morphology, expressed pluripotency markers, was able to differentiate into the three germ layers in vitro and displayed a normal karyotype. The line represents a valuable HHT1 disease-model and an important tool for drug testing. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Cantarini C, Lorrain V, Koutala E, Olivieri C, Raymond K, Lebrin F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Mar 21;93:103973 |
| PubMed | 41880974 |
| DOI | 10.1016/j.scr.2026.103973 |